Results
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1.
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A neonatal polyvisceral failure linked to a de novo homoplasmic mutation in the mitochondrially encoded cytochrome b gene. [electronic resource] by
- Fragaki, Konstantina
- Procaccio, Vincent
- Bannwarth, Sylvie
- Serre, Valérie
- O'Hearn, Sean
- Potluri, Prasanth
- Augé, Gaelle
- Casagrande, Florence
- Caruba, Céline
- Lambert, Jean Claude
- Paquis-Flucklinger, Véronique
Producer: 20091109
In:
Mitochondrion vol. 9
Availability: No items available.
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2.
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Letter to the Editor on a paper by Hsiao C-T, Tsai P-C, Liao Y-C, Lee Y-C, Soong B-W. C9ORF72 repeat expansion is not a significant cause of late-onset cerebellar ataxia syndrome. J Neurol Sci 2014;347:322-324. [electronic resource] by
- Plutino, Morgane
- Chaussenot, Annabelle
- Ait-El-Mkadem, Samira
- Bannwarth, Sylvie
- Genin, Emmanuelle C
- Rouzier, Cécile
- Augé, Gaëlle
- Sacconi, Sabrina
- Pouget, Jean
- Paquis-Flucklinger, Véronique
Producer: 20150901
In:
Journal of the neurological sciences vol. 351
Availability: No items available.
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3.
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CHCHD10 mutations are not a common cause of SMN1-negative type III/IV spinal motor atrophy. [electronic resource] by
- Morel, Godelieve
- Rouzier, Cécile
- Chaussenot, Annabelle
- Ait-El-Mkadem, Samira
- Bannwarth, Sylvie
- Genin, Emmanuelle C
- Augé, Gaëlle
- Chabrol, Brigitte
- Pouget, Jean
- Soriani, Marie Hélène
- Sacconi, Sabrina
- Paquis-Flucklinger, Véronique
Producer: 20160126
In:
Annals of neurology vol. 78
Availability: No items available.
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4.
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Screening of CHCHD10 in a French cohort confirms the involvement of this gene in frontotemporal dementia with amyotrophic lateral sclerosis patients. [electronic resource] by
- Chaussenot, Annabelle
- Le Ber, Isabelle
- Ait-El-Mkadem, Samira
- Camuzat, Agnès
- de Septenville, Anne
- Bannwarth, Sylvie
- Genin, Emmanuelle C
- Serre, Valérie
- Augé, Gaëlle
- Brice, Alexis
- Pouget, Jean
- Paquis-Flucklinger, Véronique
Producer: 20151109
In:
Neurobiology of aging vol. 35
Availability: No items available.
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5.
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Inactivation of Pif1 helicase causes a mitochondrial myopathy in mice. [electronic resource] by
- Bannwarth, Sylvie
- Berg-Alonso, Laetitia
- Augé, Gaëlle
- Fragaki, Konstantina
- Kolesar, Jill E
- Lespinasse, Françoise
- Lacas-Gervais, Sandra
- Burel-Vandenbos, Fanny
- Villa, Elodie
- Belmonte, Frances
- Michiels, Jean-François
- Ricci, Jean-Ehrland
- Gherardi, Romain
- Harrington, Lea
- Kaufman, Brett A
- Paquis-Flucklinger, Véronique
Producer: 20170508
In:
Mitochondrion vol. 30
Availability: No items available.
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6.
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CHCHD10 mutations promote loss of mitochondrial cristae junctions with impaired mitochondrial genome maintenance and inhibition of apoptosis. [electronic resource] by
- Genin, Emmanuelle C
- Plutino, Morgane
- Bannwarth, Sylvie
- Villa, Elodie
- Cisneros-Barroso, Eugenia
- Roy, Madhuparna
- Ortega-Vila, Bernardo
- Fragaki, Konstantina
- Lespinasse, Françoise
- Pinero-Martos, Estefania
- Augé, Gaëlle
- Moore, David
- Burté, Florence
- Lacas-Gervais, Sandra
- Kageyama, Yusuke
- Itoh, Kie
- Yu-Wai-Man, Patrick
- Sesaki, Hiromi
- Ricci, Jean-Ehrland
- Vives-Bauza, Cristofol
- Paquis-Flucklinger, Véronique
Producer: 20160928
In:
EMBO molecular medicine vol. 8
Availability: No items available.
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7.
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Reply: High prevalence of CHCHD10 mutations in patients with frontotemporal dementia from China. [electronic resource] by
- Bannwarth, Sylvie
- Ait-El-Mkadem, Samira
- Chaussenot, Annabelle
- Genin, Emmanuelle C
- Lacas-Gervais, Sandra
- Fragaki, Konstantina
- Berg-Alonso, Laetitia
- Kageyama, Yusuke
- Serre, Valérie
- Moore, David
- Verschueren, Annie
- Rouzier, Cécile
- Le Ber, Isabelle
- Augé, Gaëlle
- Cochaud, Charlotte
- Lespinasse, Françoise
- N'Guyen, Karine
- de Septenville, Anne
- Brice, Alexis
- Yu-Wai-Man, Patrick
- Sesaki, Hiromi
- Pouget, Jean
- Paquis-Flucklinger, Véronique
Producer: 20160726
In:
Brain : a journal of neurology vol. 139
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8.
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A mitochondrial origin for frontotemporal dementia and amyotrophic lateral sclerosis through CHCHD10 involvement. [electronic resource] by
- Bannwarth, Sylvie
- Ait-El-Mkadem, Samira
- Chaussenot, Annabelle
- Genin, Emmanuelle C
- Lacas-Gervais, Sandra
- Fragaki, Konstantina
- Berg-Alonso, Laetitia
- Kageyama, Yusuke
- Serre, Valérie
- Moore, David G
- Verschueren, Annie
- Rouzier, Cécile
- Le Ber, Isabelle
- Augé, Gaëlle
- Cochaud, Charlotte
- Lespinasse, Françoise
- N'Guyen, Karine
- de Septenville, Anne
- Brice, Alexis
- Yu-Wai-Man, Patrick
- Sesaki, Hiromi
- Pouget, Jean
- Paquis-Flucklinger, Véronique
Producer: 20140923
In:
Brain : a journal of neurology vol. 137
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9.
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Reply: Is CHCHD10 Pro34Ser pathogenic for frontotemporal dementia and amyotrophic lateral sclerosis? [electronic resource] by
- Bannwarth, Sylvie
- Ait-El-Mkadem, Samira
- Chaussenot, Annabelle
- Genin, Emmanuelle C
- Lacas-Gervais, Sandra
- Fragaki, Konstantina
- Berg-Alonso, Laetitia
- Kageyama, Yusuke
- Serre, Valérie
- Moore, David
- Verschueren, Annie
- Rouzier, Cécile
- Le Ber, Isabelle
- Augé, Gaëlle
- Cochaud, Charlotte
- Lespinasse, Françoise
- N'Guyen, Karine
- de Septenville, Anne
- Brice, Alexis
- Yu-Wai-Man, Patrick
- Sesaki, Hiromi
- Pouget, Jean
- Paquis-Flucklinger, Véronique
Producer: 20151222
In:
Brain : a journal of neurology vol. 138
Availability: No items available.
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10.
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Reply: CHCHD10 mutations in Italian patients with sporadic amyotrophic lateral sclerosis. [electronic resource] by
- Bannwarth, Sylvie
- Ait-El-Mkadem, Samira
- Chaussenot, Annabelle
- Genin, Emmanuelle C
- Lacas-Gervais, Sandra
- Fragaki, Konstantina
- Berg-Alonso, Laetitia
- Kageyama, Yusuke
- Serre, Valérie
- Moore, David
- Verschueren, Annie
- Rouzier, Cécile
- Le Ber, Isabelle
- Augé, Gaëlle
- Cochaud, Charlotte
- Lespinasse, Françoise
- N'Guyen, Karine
- de Septenville, Anne
- Brice, Alexis
- Yu-Wai-Man, Patrick
- Sesaki, Hiromi
- Pouget, Jean
- Paquis-Flucklinger, Véronique
Producer: 20151001
In:
Brain : a journal of neurology vol. 138
Availability: No items available.
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11.
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Reply: Are CHCHD10 mutations indeed associated with familial amyotrophic lateral sclerosis? [electronic resource] by
- Bannwarth, Sylvie
- Ait-El-Mkadem, Samira
- Chaussenot, Annabelle
- Genin, Emmanuelle C
- Lacas-Gervais, Sandra
- Fragaki, Konstantina
- Berg-Alonso, Laetitia
- Kageyama, Yusuke
- Serre, Valérie
- Moore, David
- Verschueren, Annie
- Rouzier, Cécile
- Le Ber, Isabelle
- Augé, Gaëlle
- Cochaud, Charlotte
- Lespinasse, Françoise
- N'Guyen, Karine
- de Septenville, Anne
- Brice, Alexis
- Yu-Wai-Man, Patrick
- Sesaki, Hiromi
- Pouget, Jean
- Paquis-Flucklinger, Véronique
Producer: 20150318
In:
Brain : a journal of neurology vol. 137
Availability: No items available.
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12.
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Reply: Mutations in the CHCHD10 gene are a common cause of familial amyotrophic lateral sclerosis. [electronic resource] by
- Bannwarth, Sylvie
- Ait-El-Mkadem, Samira
- Chaussenot, Annabelle
- Genin, Emmanuelle C
- Lacas-Gervais, Sandra
- Fragaki, Konstantina
- Berg-Alonso, Laetitia
- Kageyama, Yusuke
- Serre, Valérie
- Moore, David
- Verschueren, Annie
- Rouzier, Cécile
- Le Ber, Isabelle
- Augé, Gaëlle
- Cochaud, Charlotte
- Lespinasse, Françoise
- N'Guyen, Karine
- de Septenville, Anne
- Brice, Alexis
- Yu-Wai-Man, Patrick
- Sesaki, Hiromi
- Pouget, Jean
- Paquis-Flucklinger, Véronique
Producer: 20150318
In:
Brain : a journal of neurology vol. 137
Availability: No items available.
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13.
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Reply: A distinct clinical phenotype in a German kindred with motor neuron disease carrying a CHCHD10 mutation. [electronic resource] by
- Bannwarth, Sylvie
- Ait-El-Mkadem, Samira
- Chaussenot, Annabelle
- Genin, Emmanuelle C
- Lacas-Gervais, Sandra
- Fragaki, Konstantina
- Berg-Alonso, Laetitia
- Kageyama, Yusuke
- Serre, Valérie
- Moore, David
- Verschueren, Annie
- Rouzier, Cécile
- Le Ber, Isabelle
- Augé, Gaëlle
- Cochaud, Charlotte
- Lespinasse, Françoise
- N'Guyen, Karine
- de Septenville, Anne
- Brice, Alexis
- Yu-Wai-Man, Patrick
- Sesaki, Hiromi
- Pouget, Jean
- Paquis-Flucklinger, Véronique
Producer: 20151103
In:
Brain : a journal of neurology vol. 138
Availability: No items available.
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14.
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Reply: Two novel mutations in conserved codons indicate that CHCHD10 is a gene associated with motor neuron disease. [electronic resource] by
- Bannwarth, Sylvie
- Ait-El-Mkadem, Samira
- Chaussenot, Annabelle
- Genin, Emmanuelle C
- Lacas-Gervais, Sandra
- Fragaki, Konstantina
- Berg-Alonso, Laetitia
- Kageyama, Yusuke
- Serre, Valérie
- Moore, David
- Verschueren, Annie
- Rouzier, Cécile
- Le Ber, Isabelle
- Augé, Gaëlle
- Cochaud, Charlotte
- Lespinasse, Françoise
- N'Guyen, Karine
- de Septenville, Anne
- Brice, Alexis
- Yu-Wai-Man, Patrick
- Sesaki, Hiromi
- Pouget, Jean
- Paquis-Flucklinger, Véronique
Producer: 20150318
In:
Brain : a journal of neurology vol. 137
Availability: No items available.
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